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Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis

Alpha mannosidosis is an ultrarare pathology with variable phenotypic manifestations, characterized by the deficiency of lysosomal alpha mannosidase which causes accumulation of neutral oligosaccharides. Until recently, the hematopoietic stem cell transplantation was the only clinical feasible thera...

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書目詳細資料
發表在:JIMD Rep
Main Authors: Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
格式: Artigo
語言:Inglês
出版: John Wiley & Sons, Inc. 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463052/
https://ncbi.nlm.nih.gov/pubmed/32905047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12144
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